A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3250282



Internal ID22377494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:48144185..48180651hg38UCSC Ensembl
Outerchr8:49056745..49093211hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg381068
hg191068
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14279826, nssv14279833, nssv14279831, nssv14279828, nssv14279830, nssv14279832, nssv14279829, nssv14279825, nssv14279827
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3250282
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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